ESCO1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 3276438	NM_052911.3(ESCO1):c.2278A>G (p.Thr760Ala)	ESCO1 (T760A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619918	NM_052911.3(ESCO1):c.2223C>G (p.Ile741Met)	ESCO1 (I741M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090418	NM_052911.3(ESCO1):c.2185T>A (p.Trp729Arg)	ESCO1 (W729R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716495	NM_052911.3(ESCO1):c.1954-22AT[10]	ESCO1	Microsatellite (intron variant)	not provided	GBenign
Select item 2314144	NM_052911.3(ESCO1):c.1803T>G (p.Asp601Glu)	ESCO1 (D601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369612	NM_052911.3(ESCO1):c.1748A>G (p.His583Arg)	ESCO1 (H583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392793	NM_052911.3(ESCO1):c.1732C>G (p.Pro578Ala)	ESCO1 (P578A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276437	NM_052911.3(ESCO1):c.1727C>T (p.Ser576Phe)	ESCO1 (S576F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368835	NM_052911.3(ESCO1):c.1685C>A (p.Thr562Lys)	ESCO1 (T562K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090414	NM_052911.3(ESCO1):c.1612G>T (p.Ala538Ser)	ESCO1 (A538S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370832	NM_052911.3(ESCO1):c.1544G>C (p.Cys515Ser)	ESCO1 (C515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391676	NM_052911.3(ESCO1):c.1525A>C (p.Asn509His)	ESCO1 (N509H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223333	NM_052911.3(ESCO1):c.1520C>T (p.Ala507Val)	ESCO1 (A507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272403	NM_052911.3(ESCO1):c.1501A>G (p.Lys501Glu)	ESCO1 (K501E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276439	NM_052911.3(ESCO1):c.1387G>A (p.Val463Met)	ESCO1 (V463M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090413	NM_052911.3(ESCO1):c.1324A>G (p.Lys442Glu)	ESCO1 (K442E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276441	NM_052911.3(ESCO1):c.1280T>C (p.Leu427Ser)	ESCO1 (L427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493454	NM_052911.3(ESCO1):c.1158G>C (p.Lys386Asn)	ESCO1 (K386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090412	NM_052911.3(ESCO1):c.1090C>T (p.Arg364Cys)	ESCO1 (R364C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090411	NM_052911.3(ESCO1):c.1013A>G (p.Glu338Gly)	ESCO1 (E338G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536217	NM_052911.3(ESCO1):c.983T>C (p.Met328Thr)	ESCO1 (M328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347784	NM_052911.3(ESCO1):c.973T>C (p.Ser325Pro)	ESCO1 (S325P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317192	NM_052911.3(ESCO1):c.884C>T (p.Ala295Val)	ESCO1 (A295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090423	NM_052911.3(ESCO1):c.859C>G (p.Gln287Glu)	ESCO1 (Q287E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405196	NM_052911.3(ESCO1):c.829C>G (p.Pro277Ala)	ESCO1 (P277A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276436	NM_052911.3(ESCO1):c.778A>T (p.Asn260Tyr)	ESCO1 (N260Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755415	NM_052911.3(ESCO1):c.771G>A (p.Pro257=)	ESCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276435	NM_052911.3(ESCO1):c.770C>T (p.Pro257Leu)	ESCO1 (P257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090422	NM_052911.3(ESCO1):c.710C>T (p.Thr237Met)	ESCO1 (T237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463657	NM_052911.3(ESCO1):c.641G>T (p.Cys214Phe)	ESCO1 (C214F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524733	NM_052911.3(ESCO1):c.637G>T (p.Ala213Ser)	ESCO1 (A213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485767	NM_052911.3(ESCO1):c.632A>G (p.Gln211Arg)	ESCO1 (Q211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324072	NM_052911.3(ESCO1):c.500C>G (p.Ser167Cys)	ESCO1 (S167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354572	NM_052911.3(ESCO1):c.466A>G (p.Lys156Glu)	ESCO1 (K156E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276434	NM_052911.3(ESCO1):c.412A>G (p.Ser138Gly)	ESCO1 (S138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090420	NM_052911.3(ESCO1):c.362G>A (p.Arg121Lys)	ESCO1 (R121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610344	NM_052911.3(ESCO1):c.349C>G (p.Gln117Glu)	ESCO1 (Q117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276440	NM_052911.3(ESCO1):c.308C>G (p.Ser103Cys)	ESCO1 (S103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090419	NM_052911.3(ESCO1):c.283C>G (p.Gln95Glu)	ESCO1 (Q95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600953	NM_052911.3(ESCO1):c.235G>A (p.Ala79Thr)	ESCO1 (A79T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090417	NM_052911.3(ESCO1):c.208T>C (p.Ser70Pro)	ESCO1 (S70P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521745	NM_052911.3(ESCO1):c.205A>G (p.Arg69Gly)	ESCO1 (R69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259323	NM_052911.3(ESCO1):c.164G>A (p.Ser55Asn)	ESCO1 (S55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206979	NM_052911.3(ESCO1):c.26A>C (p.Lys9Thr)	ESCO1 (K9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 2445432	GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1	ESCO1, GREB1L	Copy number loss	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GPathogenic
Select item 2422760	NC_000018.9:g.(?_18963480)_(21534612_?)dup	ABHD3, ANKRD29 +15 more	Duplication	Niemann-Pick disease, type C1	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 815990	GRCh37/hg19 18q11.1-11.2(chr18:18775750-19112469)x3	ESCO1, GREB1L	Copy number gain	not provided	GUncertain significance
Select item 686554	GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3	ABHD3, ESCO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 441657	GRCh37/hg19 18q11.1-11.2(chr18:18540833-19156332)x3	ESCO1, GREB1L +1 more	Copy number gain	See cases	GUncertain significance
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 81